Exotema

Exotema refers to a rare genetic disorder characterized by abnormalities in the development of the external genitalia. It is considered a type of intersex variation, meaning that an individual's biological sex characteristics do not fit typical definitions of male or female. The specific manifestations of exotema can vary widely, but often include variations in the size and shape of the penis or clitoris, as well as the position and fusion of the labia or scrotum. In some cases, there may be a partial or complete absence of the urethra opening on the penis or within the vaginal area.

The genetic basis of exotema is not fully understood, but it is believed to involve mutations in genes that play a crucial role in the hormonal and developmental pathways of sexual differentiation during fetal development. These genetic changes can lead to atypical responses to sex hormones or direct disruptions in the formation of genital structures. Diagnosis typically occurs at birth or in early childhood through physical examination and can be confirmed with genetic testing and hormonal assessments.

Management of exotema is individualized and focuses on addressing the specific anatomical and hormonal variations present. Medical interventions may include surgical procedures to reconstruct the genitalia, hormone therapy to support appropriate development, and ongoing psychological support for the individual and their family. The long-term outlook for individuals with exotema depends on the severity of the condition and the specific medical interventions received.